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Complex I (reduced nicotinamide-adenine dinucleotide-coenzyme Q reductase) deficiency in two patients with probable Leigh syndrome.

Abstract
Two infants who had clinical and radiographic findings consistent with Leigh syndrome were found to have deficiency of complex I (reduced nicotinamide-adenine dinucleotide--coenzyme Q reductase) activity. Significant abnormalities were found on computed tomographic scans and magnetic resonance images of the brain. Lactate and pyruvate concentrations in blood and cerebrospinal fluid were elevated, and muscle biopsy specimens showed abnormal mitochondria. These data indicate that Leigh syndrome, as well as MELAS syndrome (mitochondrial encephalopathy, myopathy, lactic acidosis, and stroke-like episodes) may result from complex I deficiency.
AuthorsT Fujii, M Ito, T Okuno, K Mutoh, R Nishikomori, H Mikawa
JournalThe Journal of pediatrics (J Pediatr) Vol. 116 Issue 1 Pg. 84-7 (Jan 1990) ISSN: 0022-3476 [Print] United States
PMID2104930 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • NAD(P)H Dehydrogenase (Quinone)
  • Quinone Reductases
Topics
  • Brain Diseases, Metabolic (enzymology)
  • Child, Preschool
  • Female
  • Humans
  • Infant
  • Leigh Disease (diagnosis, enzymology)
  • Magnetic Resonance Imaging
  • NAD(P)H Dehydrogenase (Quinone)
  • Quinone Reductases (deficiency)
  • Tomography, X-Ray Computed

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